Výsledky vyhledávání - "Mariko Shimohama"

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168GA) mutation in families of a limited geographic area of Argentina: a possible population cluster

Autor: Raquel Dodelson de Kremer, Sandra L. Antonozzi, Mariko Shimohama, Celia J. Angaroni, Laura E. Laróvere, Miriam B. Bezard

Publikováno v: Clinical biochemistry. 42(10-11)

Objective Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. Design and methods Molec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4396b31f23f6324fea1248030cfdcd
https://pubmed.ncbi.nlm.nih.gov/19358837

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